A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family

We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14‐year‐old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations.     

Direct insertion of an ultra‐slim upper endoscope for cholangioscopy in patients undergoing choledochoduodenostomy

Direct peroral cholangioscopy (POC) using an ultra‐slim upper endoscope is one modality of POC for intraductal endoscopic evaluation and treatment of the bile duct. Choledochoduodenostomy (CDS) is one modality of biliary bypass surgery that provides a new route to the bile duct. We carried out direct POC using an ultra‐slim upper endoscope without the use of accessories in 10 patients (four sump syndromes, three bile duct strictures and three intrahepatic duct stones) previously undergoing surgical CDS. Direct POC was successful in all patients. The use of an intraductal balloon catheter was required in one patient for advancement of the endoscope into the bile duct. Distal bile ducts with sump syndromes were cleared using baskets and water irrigation under direct POC. Cholangiocarcinoma was diagnosed in one patient with hilar bile duct stricture after cholangioscopic evaluation and a targeting forceps biopsy under direct POC. Intrahepatic duct stones were successfully extracted after intraductal fragmentation under direct POC. Oozing bleeding occurred during intraductal lithotripsy but stopped spontaneously. Direct POC using an ultra‐slim upper endoscope without the assistance of accessories can easily be carried out in patients undergoing CDS.     

可弯曲胸腔镜和硬质胸腔镜诊断不明原因胸腔积液的对比临床研究

目的对比可弯曲胸腔镜和硬质胸腔镜在不明原因胸腔积液诊断中的准确性和安全性。方法采用前瞻性随机对照研究,连续筛选四川大学华西医院2012年3月至2014年3月期间不明原因胸腔积液住院患者,患者年龄18~75岁。经知情同意后,患者随机进入可弯曲胸腔镜组或硬质胸腔镜组进行检查。结果可弯曲胸腔镜组入组49例患者,硬质胸腔镜组入组48例患者。两组共有44例患者通过胸腔镜检查确诊为恶性疾病,48例确诊为良性疾病。两组诊断不明原因胸腔积液总体准确性分别为93.9%和95.8%,可弯曲胸腔镜组诊断肿瘤的敏感性为96.0%,硬质胸腔镜组诊断肿瘤的敏感性为95.2%,两组诊断肿瘤的特异性均为100.0%,两组之间差异无统计学意义。两种胸腔镜技术并发症多数轻微,患者均耐受良好。结论对于不明原因胸腔积液,可弯曲胸腔镜诊断的准确性与硬质胸腔镜相当。尽管可弯曲胸腔镜取材组织小,但是通过多点多次取材,所获得的组织标本能满足病理科医生进行包括免疫组织化学检测在内的疾病诊断。     

Utility of Tissue Similarity Maps Based on Relative Cerebral Blood Volume for Grading Gliomas as Validated by Histological Results

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不同非密闭雾化治疗方式在不合作患儿中的应用效果

目的 探讨不同非密闭雾化方式在不合作患儿接受布地奈德雾化治疗中的应用效果。方法 选取本院门诊270例3岁以下使用布地奈德雾化治疗的患儿,采用随机数字表法将患儿分为Pari雾化系统、Philips雾化系统及Salter雾化系统3个治疗组,毎组90例,各组又依据面罩距离面部0 cm、2 cm、4 cm分为3个小组,毎组30例,分别测量各组雾化气流流速及吸入雾化颗粒量占总雾化颗粒量的比例。采用方差分析及Bonferroni进行统计分析。结果 雾化气流流速及雾化吸入量在不同雾化系统组间差异有统计学意义(P<0.05)。在3种距离下,Pari系统均能使患儿吸入最多量的雾化颗粒,其次是Salter系统,再是Philips系统,与此相反,气流流速Pari系统最低。Pari系统离开面部4 cm及Salter系统离开面部2 cm的吸入量均高于Philips系统0 cm的吸入量。结论 选择合适的非密闭雾化系统方式,是提高不合作患儿布地奈德雾化治疗的有效方式。     

Specific alterations in plasma proteins during depressed,manic, and euthymic states of bipolar disorder

Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2% of the general population of different European countries. Unfortunately, there is no objective laboratory-based test to aid BD diagnosis or monitor its progression, and little is known about the molecular basis of BD. Here, we performed a comparative proteomic study to identify differentially expressed plasma proteins in various BD mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched healthy control subjects were recruited. Seven high-abundance proteins were immunodepleted in plasma samples from the 4 experimental groups, which were then subjected to proteome-wide expression profiling by two-dimensional electrophoresis and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem mass spectrometry. Proteomic results were validated by immunoblotting and bioinformatically analyzed using MetaCore. From a total of 32 proteins identified with 1.5-fold changes in expression compared with healthy controls, 16 proteins were perturbed in BD independent of mood state, while 16 proteins were specifically associated with particular BD mood states. Two mood-independent differential proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be associated with early perturbations in lipid metabolism. Moreover, down-regulation of one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be associated with early perturbations in lipid metabolism that are independent of mood state, while CA-1 may be involved in the pathophysiology of depressive episodes.     

Efeitos Terapêuticos da Tripla Antiagregação Plaquetária em Pacientes Femininas Idosas com Diabetes e Infarto Agudo do Miocárdio

BackgroundDual antiplatelet therapy (DAPT) is the cornerstone treatment of acute myocardial infarction (AMI).ObjectiveThe present study aimed to investigate the efficacy and safety of triple antiplatelet therapy (TAPT) in elderly female patients with diabetes and ST segment elevation myocardial infarction (STEMI), who had undergone percutaneous coronary intervention (PCI).MethodsWe designed a randomized, single-blind study. Control group A (97 elderly male patients with diabetes and STEMI, whose CRUSADE scores were < 30) received aspirin, ticagrelor, and tirofiban. A total of 162 elderly female patients with diabetes and STEMI were randomly divided into two groups according to CRUSADE score. Group B (69 patients with CRUSADE score > 31) received aspirin and ticagrelor. Group C (93 patients with CRUSADE score < 30) received aspirin, ticagrelor and tirofiban. P values < 0.05 were considered statistically significant.ResultsCompared to the findings in group A, post-PCI Thrombolysis in Myocardial Infarction (TIMI) grade 3 blood flow and TIMI myocardial perfusion grade 3 were significantly less prevalent in group B (p < 0.05). When compared to groups A and C, the incidence of major adverse complications was significantly higher in group B (p < 0.05).ConclusionTAPT could effectively reduce the incidence of major complications in elderly female patients with diabetes and STEMI. However, close attention should be paid to hemorrhage in patients receiving TAPT. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)